Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02172:Krtcap3'

282921

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Krtcap3

Ensembl Gene

ENSMUSG00000029149

Gene Name

keratinocyte associated protein 3

Synonyms

2010001C09Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.116) question?

Stock #

IGL02172

Quality Score

Status

Chromosome

Chromosomal Location

31409050-31410541 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 31409397 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Proline at position 55 (T55P)

Ref Sequence

ENSEMBL: ENSMUSP00000144464 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031034] [ENSMUST00000041565] [ENSMUST00000054829] [ENSMUST00000201625] [ENSMUST00000201937] [ENSMUST00000202505] [ENSMUST00000202576]

AlphaFold

Q8K177

Predicted Effect

probably benign
Transcript: ENSMUST00000031034

SMART Domains

Protein: ENSMUSP00000031034
Gene: ENSMUSG00000029148

Domain	Start	End	E-Value	Type
low complexity region	27	60	N/A	INTRINSIC
Pfam:Pkinase_Tyr	80	324	5.8e-26	PFAM
Pfam:Pkinase	80	327	1e-26	PFAM
low complexity region	412	436	N/A	INTRINSIC
low complexity region	459	476	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000041565

SMART Domains

Protein: ENSMUSP00000049335
Gene: ENSMUSG00000038564

Domain	Start	End	E-Value	Type
WD40	2	44	6e-3	SMART
WD40	55	94	2.22e0	SMART
WD40	102	139	1.23e2	SMART
WD40	141	180	4.6e0	SMART
WD40	186	223	3.3e1	SMART
WD40	225	267	4.42e1	SMART
WD40	279	314	1.03e1	SMART
Blast:WD40	516	550	5e-13	BLAST
low complexity region	573	588	N/A	INTRINSIC
internal_repeat_1	625	1026	1.7e-10	PROSPERO
Blast:TPR	1029	1062	2e-13	BLAST
low complexity region	1077	1091	N/A	INTRINSIC
internal_repeat_1	1101	1498	1.7e-10	PROSPERO

Predicted Effect

probably damaging
Transcript: ENSMUST00000054829
AA Change: T55P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000060414
Gene: ENSMUSG00000029149
AA Change: T55P

Domain	Start	End	E-Value	Type
Pfam:BCLP	19	211	8.6e-80	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200857

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201070

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201333

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201393

Predicted Effect

probably damaging
Transcript: ENSMUST00000201625
AA Change: T55P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000144052
Gene: ENSMUSG00000029149
AA Change: T55P

Domain	Start	End	E-Value	Type
Pfam:BCLP	19	206	1.8e-74	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000201937
AA Change: T55P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000144464
Gene: ENSMUSG00000029149
AA Change: T55P

Domain	Start	End	E-Value	Type
Pfam:BCLP	19	206	1.8e-74	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201672

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202801

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201697

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202007

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202982

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202384

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202560

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201565

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201426

Predicted Effect

probably benign
Transcript: ENSMUST00000202505

SMART Domains

Protein: ENSMUSP00000144292
Gene: ENSMUSG00000029148

Domain	Start	End	E-Value	Type
STYKc	14	184	1.3e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000202576

SMART Domains

Protein: ENSMUSP00000143872
Gene: ENSMUSG00000029148

Domain	Start	End	E-Value	Type
low complexity region	27	60	N/A	INTRINSIC
Pfam:Pkinase	79	335	1e-24	PFAM
Pfam:Pkinase_Tyr	81	332	6.5e-25	PFAM
low complexity region	420	444	N/A	INTRINSIC
low complexity region	467	484	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	G	1: 71,341,817 (GRCm39)	V1048A	probably benign	Het
Adgre1	C	T	17: 57,785,879 (GRCm39)	T875I	probably damaging	Het
Arhgef26	T	C	3: 62,367,097 (GRCm39)	V810A	probably benign	Het
Atf1	T	A	15: 100,152,322 (GRCm39)	V105E	probably damaging	Het
Bbs9	C	T	9: 22,490,772 (GRCm39)	T300I	possibly damaging	Het
Bltp1	T	C	3: 37,059,022 (GRCm39)	V3236A	probably damaging	Het
Brd7	G	T	8: 89,078,452 (GRCm39)	H226Q	probably benign	Het
Cadps	T	C	14: 12,705,681 (GRCm38)	K238R	probably damaging	Het
Chordc1	A	G	9: 18,213,388 (GRCm39)	T80A	possibly damaging	Het
Clca4a	A	T	3: 144,676,155 (GRCm39)	C126*	probably null	Het
Col24a1	A	T	3: 145,020,723 (GRCm39)	T365S	probably benign	Het
Crb1	C	T	1: 139,164,965 (GRCm39)	G1053D	probably damaging	Het
Creb3l4	A	T	3: 90,150,082 (GRCm39)	S20T	probably benign	Het
Cyp2c67	C	T	19: 39,637,446 (GRCm39)	C10Y	possibly damaging	Het
Dhdh	A	T	7: 45,125,041 (GRCm39)	C294S	probably damaging	Het
Fam135a	A	G	1: 24,063,861 (GRCm39)		probably null	Het
Fsd1	G	T	17: 56,297,244 (GRCm39)		probably benign	Het
Gatad2b	A	G	3: 90,262,978 (GRCm39)		probably benign	Het
Glb1l2	T	C	9: 26,680,382 (GRCm39)	D232G	probably damaging	Het
Gm10553	T	C	1: 85,078,015 (GRCm39)	L44P	probably damaging	Het
Hecw1	T	C	13: 14,438,734 (GRCm39)	Y883C	probably damaging	Het
Helq	A	G	5: 100,938,013 (GRCm39)	F478L	probably damaging	Het
Ift172	T	C	5: 31,438,681 (GRCm39)		probably benign	Het
Megf6	A	G	4: 154,355,149 (GRCm39)	D1488G	probably damaging	Het
Mrpl1	T	C	5: 96,379,574 (GRCm39)	V203A	probably damaging	Het
Myh2	A	T	11: 67,079,878 (GRCm39)	D1084V	possibly damaging	Het
Necap2	T	A	4: 140,805,621 (GRCm39)		probably benign	Het
Nemp1	A	G	10: 127,528,868 (GRCm39)	S191G	probably benign	Het
Nrip1	T	C	16: 76,088,380 (GRCm39)	D1059G	probably damaging	Het
Ntrk3	A	T	7: 78,110,020 (GRCm39)		probably benign	Het
Or51e1	G	A	7: 102,359,051 (GRCm39)	R195H	probably benign	Het
Or51f1d	A	G	7: 102,700,582 (GRCm39)	I26V	probably benign	Het
Prkdc	T	G	16: 15,627,623 (GRCm39)	V3427G	probably benign	Het
Ptprn2	A	T	12: 116,837,317 (GRCm39)		probably benign	Het
Ptprt	A	T	2: 161,397,422 (GRCm39)	L1095H	probably damaging	Het
Ren1	T	A	1: 133,286,771 (GRCm39)	L300Q	possibly damaging	Het
Rgl3	A	G	9: 21,888,134 (GRCm39)	I460T	probably damaging	Het
Ror2	C	T	13: 53,264,764 (GRCm39)	S764N	probably damaging	Het
Runx1t1	A	C	4: 13,859,924 (GRCm39)	Q265P	probably benign	Het
Sh3d21	A	G	4: 126,046,153 (GRCm39)	S282P	probably benign	Het
Slc39a13	T	C	2: 90,893,505 (GRCm39)	E318G	possibly damaging	Het
Srd5a3	T	C	5: 76,295,556 (GRCm39)	I82T	probably benign	Het
Stard7	C	A	2: 127,132,792 (GRCm39)	T220N	probably damaging	Het
Tbx4	G	A	11: 85,805,389 (GRCm39)	G493R	possibly damaging	Het
Trerf1	A	T	17: 47,628,743 (GRCm39)		noncoding transcript	Het
Trim59	T	A	3: 68,944,810 (GRCm39)	I177L	probably benign	Het
Trpm7	T	C	2: 126,637,248 (GRCm39)	M1789V	possibly damaging	Het
Tsc22d1	T	C	14: 76,655,132 (GRCm39)	V455A	probably benign	Het
Vmn2r118	C	A	17: 55,931,598 (GRCm39)	M25I	probably benign	Het
Wdr38	A	T	2: 38,888,424 (GRCm39)	N7I	probably damaging	Het
Wdr90	G	A	17: 26,069,408 (GRCm39)	T1233I	probably benign	Het
Zcchc2	G	A	1: 105,928,664 (GRCm39)	D308N	probably benign	Het
Zfp57	G	T	17: 37,320,481 (GRCm39)	V112L	possibly damaging	Het
Zfp874b	A	T	13: 67,622,135 (GRCm39)	Y388N	probably damaging	Het

Other mutations in Krtcap3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01503:Krtcap3	APN	5	31,409,167 (GRCm39)	critical splice donor site	probably benign	0.00
R0021:Krtcap3	UTSW	5	31,410,303 (GRCm39)	missense	probably benign	0.00
R0021:Krtcap3	UTSW	5	31,410,303 (GRCm39)	missense	probably benign	0.00
R0553:Krtcap3	UTSW	5	31,409,147 (GRCm39)	missense	probably benign	0.00
R6258:Krtcap3	UTSW	5	31,409,572 (GRCm39)	missense	probably damaging	0.99
R7418:Krtcap3	UTSW	5	31,409,881 (GRCm39)	missense	probably benign	0.45
R7655:Krtcap3	UTSW	5	31,409,904 (GRCm39)	missense	probably damaging	1.00
R7656:Krtcap3	UTSW	5	31,409,904 (GRCm39)	missense	probably damaging	1.00
R7954:Krtcap3	UTSW	5	31,410,015 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16